A novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome

scientific article published on 01 February 2012

A novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1038811087
P356DOI10.1007/BF03345419
P698PubMed publication ID22490989

P50authorMaurizio CastellanoQ42733067
P2093author name stringE Agabiti Rosei
I Pirola
L Mori
A Panarotto
L Daffini
M C Tacchetti
M Giacché
P2860cites workCharacterization of mutations in patients with multiple endocrine neoplasia type 1.Q24538768
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the geneQ28249576
Positional cloning of the gene for multiple endocrine neoplasia-type 1Q28307577
Multiple endocrine neoplasia type 1.Q33871564
Guidelines for diagnosis and therapy of MEN type 1 and type 2.Q34104591
Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.Q34386633
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.Q34630270
Menin interacting proteins as clues toward the understanding of multiple endocrine neoplasia type 1.Q35006210
American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer SusceptibilityQ35105968
Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patientsQ35442479
Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoterQ35978041
Tissue selectivity in multiple endocrine neoplasia type 1-associated tumorigenesis.Q37572229
Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumorsQ37630910
Menin dynamics and functional insight: take your partnersQ37732894
MEN-4 and other multiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27Kip1 and p18INK4C) mutationsQ37787565
p27kip1: a new multiple endocrine neoplasia gene?Q37803487
A novel missense mutation in the MEN1 gene in a patient with multiple endocrine neoplasia type 1.Q37860028
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasiaQ48079288
Functional studies of the MEN1 geneQ48245733
Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree.Q50565408
A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype.Q52611857
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.Q53312970
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.Q54680442
Clinical studies of multiple endocrine neoplasia type 1 (MEN1)Q71777163
Genotype-phenotype analysis in multiple endocrine neoplasia type 1Q74243372
Lethality of multiple endocrine neoplasia type IQ74580275
Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of familiesQ74645849
Multiple endocrine neoplasia type 1: clinical and genetic topicsQ77292736
Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidismQ77647381
Analysis of the MEN1 gene in sporadic pituitary adenomasQ77976684
Thymic neuroendocrine carcinoma (carcinoid) in multiple endocrine neoplasia type 1 syndrome: the Italian seriesQ81406313
Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in SpainQ82192110
P433issue2
P921main subjectmultiple endocrine neoplasiaQ1553018
multiple endocrine neoplasia type 1Q3347154
P304page(s)124-128
P577publication date2012-02-01
P1433published inJournal of Endocrinological InvestigationQ15766847
P1476titleA novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome
P478volume35

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cites work (P2860)
Q36192096MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients
Q56927393Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database
Q42695925Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.
Q58750857The Importance of an Early and Accurate MEN1 Diagnosis
Q91681870True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome

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